NGDC - GSA for Human

HRA009362

HRA009362.xlsx

Title:

IQUB mutation induced radial spoke 1 deficiency causing asthenozoospermia with normal sperm morphology in humans and mice

Release date:

2024-11-22

Description:

Asthenozoospermia (ASZ) accounts for about 20%-40% of male infertility, and its related genetic factors still need further exploration. Radial spokes (RSs, RS1-3), as a T-shaped macromolecular complex, connect the peripheral doublets of microtubule (DMTs) to a central pair (CP), forming a CP-RS-DMT structure to regulate the beat frequency and amplitude of sperm flagella. In this study, we identified a novel homozygous IQUB mutation [c.842del (p.L281Pfs*28)] in an ASZ male with normal sperm morphology (ANM), which resulted in the complete loss of IQUB in sperm flagella. Deficiency of RS1, but not RS2 or RS3, was observed in both IQUB842del patient and Iqub-/- mice, and resulted in the reduction of sperm kinetic parameters, indicating that mammalian IQUB is critical for the RS1 assembly and sperm flagellar beat. Finally, intracytoplasmic sperm injection (ICSI) can effectively resolve the male infertility caused by IQUB genetic defects.

Data Accessibility:

Controlled access Request Data

BioProject:

PRJCA011671

Study type:

Disease Study

Disease name:

male infertility

Data Access Committee

For each controlled access study, there is a corresponding Data Access Committee(DAC) to determine the access permissions. Access to actual data files is not managed by NGDC.

DAC NO.:

HDAC001015

DAC name:

RGI_Chongqing

Contact person:

Huang Guoning

Email:

gnhuang217@sina.com

Description:

Reproductive and Genetic Institute, Chongqing Health Center for Women and Children

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